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Mutations of RUNX1 in families with inherited thrombocytopenia
(Wiley-liss, Div John Wiley & Sons Inc, 2017-06)
Familial platelet disorder with propensity to myeloid malignancy (FPD/AML) is a rare autosomal dominant form of thrombocytopenia associated with an increased risk of myelodysplastic syndrome and acute myeloid leukemia (AML) ...
Differential expression of SDF-1 receptor CXCR4 in molecularly defined forms of inherited thrombocytopenias
(Taylor & Francis Ltd, 2016-12)
The SDF-1-CXCR4 axis plays an essential role in the regulation of platelet production, by directing megakaryocyte (MK) migration toward the vascular niche, thus allowing terminal maturation and proplatelet formation, and ...
Aplicación de la secuenciación masiva en el diagnóstico de niños con sospecha de trastorno plaquetario congénito con fenotipo inespecífico
Introducción: La Next Generation Sequencing (NGS) ha revolucionado el diagnostico de los trastornos plaquetarios congénitos (TPC). Los TPC pueden ser trombocitopenias hereditarias (TH) o trombopatías hereditarias ...
International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country
(Wiley Blackwell Publishing, Inc, 2012-08)
Inherited thrombocytopenias (ITs) are heterogeneous genetic disorders that frequently represent a diagnostic challenge. The requirement of highly specialized tests for diagnosis represents a particular problem in resourcelimited ...
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia
(Ferrata Storti Foundation, 2014-08)
Pregnancy in women with inherited thrombocytopenias is a major matter of concern as both the mothers and the newborns are potentially at risk of bleeding. However, medical management of this condition cannot be based on ...
Bleeding risk of surgery and its prevention in patients with inherited platelet disorders. The Surgery in Platelet disorders And Therapeutic Approach (SPATA) study
(Ferrata Storti Foundation, 2017-04)
Excessive bleeding at surgery is a feared complication in patients with inherited platelet disorders (IPD), however very few studies have evaluated the frequency of surgical bleeding in these hemorrhagic disorders. We ...
An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis
(Nature Publishing GroupNew YorkEUA, 2006)
Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders
(American Society of Hematology, 2014-08)
Abnormalities of platelet size are one of the distinguishing features of inherited thrombocytopenias (ITs), and evaluation of blood films is recommended as an essential step for differential diagnosis of these disorders. ...
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease
(Wiley-liss, Div John Wiley & Sons Inc, 2008-03)
MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in MYH9, the gene for the heavy chain of nonmuscle myosin IIA (NMMHC-IIA). All patients present from birth with macrothrombocytopenia, ...
Mechanisms underlying platelet function defect in a pedigree with familial platelet disorder with a predisposition to acute myelogenous leukemia: potential role for candidate RUNX1 targets
(Wiley, 2014-05)
Background: Familial platelet disorder with a predisposition to acute myelogenous leukemia (FPD/AML) is an inherited platelet disorder caused by a germline RUNX1 mutation and characterized by thrombocytopenia, a platelet ...